Seuraa
Damian Smedley
Damian Smedley
Vahvistettu sähköpostiosoite verkkotunnuksessa qmul.ac.uk - Kotisivu
Nimike
Viittaukset
Viittaukset
Vuosi
Ensembl 2007
TJP Hubbard, BL Aken, K Beal, B Ballester, M Cáccamo, Y Chen, ...
Nucleic acids research 35 (suppl_1), D610-D617, 2007
15622007
BioMart–biological queries made easy
D Smedley, S Haider, B Ballester, R Holland, D London, G Thorisson, ...
BMC genomics 10, 1-12, 2009
10362009
Ensembl 2009
TJP Hubbard, BL Aken, S Ayling, B Ballester, K Beal, E Bragin, S Brent, ...
Nucleic acids research 37 (suppl_1), D690-D697, 2009
9572009
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
9402014
Mutational signature in colorectal cancer caused by genotoxic pks+E. coli
C Pleguezuelos-Manzano, J Puschhof, A Rosendahl Huber, A van Hoeck, ...
Nature 580 (7802), 269-273, 2020
8442020
The BioMart community portal: an innovative alternative to large, centralized data repositories
D Smedley, S Haider, S Durinck, L Pandini, P Provero, J Allen, O Arnaiz, ...
Nucleic acids research 43 (W1), W589-W598, 2015
8372015
The human phenotype ontology in 2021
S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ...
Nucleic acids research 49 (D1), D1207-D1217, 2021
8172021
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
7242019
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
6472017
Ensembl 2008
P Flicek, BL Aken, K Beal, B Ballester, M Cáccamo, Y Chen, L Clarke, ...
Nucleic acids research 36 (suppl_1), D707-D714, 2007
6252007
An overview of Ensembl
E Birney, TD Andrews, P Bevan, M Caccamo, Y Chen, L Clarke, G Coates, ...
Genome research 14 (5), 925-928, 2004
5792004
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes
JK White, AK Gerdin, NA Karp, E Ryder, M Buljan, JN Bussell, J Salisbury, ...
Cell 154 (2), 452-464, 2013
5472013
EnsMart: a generic system for fast and flexible access to biological data
A Kasprzyk, D Keefe, D Smedley, D London, W Spooner, C Melsopp, ...
Genome research 14 (1), 160-169, 2004
5082004
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
4922021
Ensembl 2006
E Birney, D Andrews, M Cáccamo, Y Chen, L Clarke, G Coates, T Cox, ...
Nucleic acids research 34 (suppl_1), D556-D561, 2006
4882006
Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
4742020
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
C Turnbull, RH Scott, E Thomas, L Jones, N Murugaesu, FB Pretty, ...
Bmj 361, 2018
4462018
BioMart Central Portal—unified access to biological data
S Haider, B Ballester, D Smedley, J Zhang, P Rice, A Kasprzyk
Nucleic acids research 37 (suppl_2), W23-W27, 2009
4202009
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
AR Martin, E Williams, RE Foulger, S Leigh, LC Daugherty, O Niblock, ...
Nature genetics 51 (11), 1560-1565, 2019
4162019
Improved exome prioritization of disease genes through cross-species phenotype comparison
PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ...
Genome research 24 (2), 340-348, 2014
3892014
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Artikkelit 1–20